Clinical and oral findings in lipoid proteinosis: a cross-sectional study from Southeastern Türkiye

Lipoid Proteinosis is a rare autosomal recessive disorder characterized by hyaline material deposition in the skin, mucosa, and various organs. Oral manifestations may significantly affect patients’ quality of life and dental management. However, studies evaluating the oral findings of patients with lipoid proteinosis are limited. This study aimed to evaluate the clinical and oral manifestations of patients with lipoid proteinosis, determine the prevalence of oral findings, compare them with the existing literature, and highlight the dental management of these patients. This cross-sectional observational study included 32 patients (16 females and 16 males) diagnosed with lipoid proteinosis and living in Şanlıurfa between 2023 and 2025. Clinical findings, oral manifestations, medical histories, and family histories were evaluated. The obtained data were statistically analyzed and compared with previously reported studies. Ethical approval was obtained from the Ethics Committee of Harran University Faculty of Dentistry (File No: HRÜ/24.05.07), and informed consent was obtained from the participants’ families. All patients (100%) presented with skin thickening or scarring, while hoarseness was observed in 93.8% of the cases. Other systemic findings included eyelid beaded papules (59.4%), nail dystrophy (37.5%), delayed wound healing (96.9%), and pruritus in wounds (84.4%). Consanguineous marriage between parents was reported in all cases (100%). Intraoral examination revealed oral mucosal thickening (87.5%), lingual frenulum thickening (65.6%), tongue thickening or stiffness (53.1%), papilla loss on the tongue (40.6%), palatal or uvular thickening (37.5%), and lower lip thickening (81.3%). Dental findings included hypodontia (21.9%), microdontia (6.3%), enamel hypoplasia (6.3%), dental crowding (37.5%), and widespread dental caries (81.3%). The findings suggest that a multidisciplinary approach involving both medical and dental professionals is essential in the management of patients with lipoid proteinosis. Early dental interventions may contribute to improved oral function, aesthetics, and quality of life. Increased awareness among dentists regarding the oral manifestations of this rare disorder is crucial, and further multidisciplinary studies are needed to better understand its dental implications.